### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SAR1B) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "SAR1B" "SAR1 homolog B (S. cerevisiae)" "5" "q31.1" "unknown" "NC_000005.9" "UD_132118851501" "" "https://www.LOVD.nl/SAR1B" "" "1" "10535" "51128" "607690" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SAR1B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-01-09 14:03:52" "00000" "2025-02-07 18:57:27" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018410" "SAR1B" "transcript variant 2" "001" "NM_016103.3" "" "NP_057187.1" "" "" "" "-134" "6398" "597" "133968533" "133936839" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00907" "MSS" "Marinesco-Sjogren syndrome (MSS)" "AR" "248800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01897" "CMRD" "chylomicron retention disease" "AR" "246700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SAR1B" "01897" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00445297" "" "" "" "1" "cc_by-nc-sa_4.0;1" "04623" "" "" "" "" "" "" "" "" "" "" "" "00445343" "" "" "" "2" "" "00006" "{PMID:Jones 2003:12692552}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Algeria" "" "0" "" "" "" "Fam1PatII1" "00445344" "" "" "00445343" "1" "" "00006" "{PMID:Jones 2003:12692552}" "sister" "F" "" "Algeria" "" "0" "" "" "" "Fam1PatII2" "00445345" "" "" "" "2" "" "00006" "{PMID:Jones 2003:12692552}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Canada" "" "0" "" "" "white" "Fam2PatII1" "00445346" "" "" "00445345" "1" "" "00006" "{PMID:Jones 2003:12692552}" "sister" "F" "" "Canada" "" "0" "" "" "white" "Fam2PatII2" "00445347" "" "" "" "1" "" "00006" "{PMID:Jones 2003:12692552}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Canada" "" "0" "" "" "white" "Fam3PatII1" "00445348" "" "" "" "1" "" "00006" "{PMID:Jones 2003:12692552}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Canada" "" "0" "" "" "white" "Fam4PatII1" "00445349" "" "" "" "2" "" "00006" "{PMID:Jones 2003:12692552}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "Fam5PatII1" "00445350" "" "" "00445349" "1" "" "00006" "{PMID:Jones 2003:12692552}" "sister" "F" "" "Turkey" "" "0" "" "" "" "Fam5PatII2" "00445351" "" "" "" "2" "" "00006" "{PMID:Jones 2003:12692552}, {PMID:Annesi 2007:17309654}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents; segregation of two diseases" "M" "" "Italy" "" "0" "" "" "" "Fam6PatII1" "00445352" "" "" "00445351" "1" "" "00006" "{PMID:Jones 2003:12692552}, {PMID:Annesi 2007:17309654}" "brother" "M" "" "Italy" "" "0" "" "" "" "Fam6PatII2" "00445353" "" "" "" "1" "" "00006" "{PMID:Jones 2003:12692552}" "" "" "" "Pakistan" "" "0" "" "" "" "Fam7PatII1" "00445354" "" "" "" "1" "" "00006" "{PMID:Jones 2003:12692552}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins)" "F" "yes" "Algeria" "" "0" "" "" "" "Fam8PatII1" "00445355" "" "" "" "1" "" "00006" "{PMID:Jones 2003:12692552}" "" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "controls" "00445356" "" "" "" "2" "" "00006" "{PMID:Charcosset 2008:17945526}" "2-generation family, 2 affected, unaffected heterozygous parents" "F" "" "Algeria" "" "0" "" "" "" "FamIPat1" "00445357" "" "" "00445356" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "brother" "M" "" "Algeria" "" "0" "" "" "" "FamIPat2" "00445358" "" "" "" "4" "" "00006" "{PMID:Charcosset 2008:17945526}" "2-generation family, 4 affected, unaffected heterozygous parents" "M" "" "Turkey" "" "0" "" "" "" "FamIIPat1" "00445359" "" "" "00445358" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "sister" "F" "" "Turkey" "" "0" "" "" "" "FamIIPat2" "00445360" "" "" "00445358" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "sister" "F" "" "Turkey" "" "0" "" "" "" "FamIIPat3" "00445361" "" "" "00445358" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "brother" "M" "" "Turkey" "" "0" "" "" "" "FamIIPat4" "00445362" "" "" "" "2" "" "00006" "{PMID:Charcosset 2008:17945526}" "2-generation family, 2 affected, unaffected heterozygous parents" "M" "" "Canada" "" "0" "" "" "French-Canadian" "FamIIIPat1" "00445363" "" "" "00445362" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "brother" "M" "" "Canada" "" "0" "" "" "French-Canadian" "FamIIIPat2" "00445364" "" "" "" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Canada" "" "0" "" "" "French-Canadian" "FamIVPat1" "00445365" "" "" "" "2" "" "00006" "{PMID:Charcosset 2008:17945526}" "2-generation family, 2 affected, unaffected heterozygous parents" "F" "" "Canada" "" "0" "" "" "French-Canadian" "FamVPat1" "00445366" "" "" "00445365" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "brother" "M" "" "Canada" "" "0" "" "" "French-Canadian" "FamVPat2" "00445367" "" "" "" "2" "" "00006" "{PMID:Charcosset 2008:17945526}" "2-generation family, 2 affected, unaffected heterozygous parents" "F" "" "Canada" "" "0" "" "" "French-Canadian" "FamVIPat1" "00445368" "" "" "00445367" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "brother" "M" "" "Canada" "" "0" "" "" "French-Canadian" "FamVIPat2" "00445369" "" "" "" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Canada" "" "0" "" "" "French-Canadian" "FamVIIPat1" "00445370" "" "" "" "1" "" "00006" "{PMID:Charcosset 2008:17945526}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Portugal" "" "0" "" "" "" "FamVIIIPat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00445297" "01897" "00445343" "01897" "00445344" "01897" "00445345" "01897" "00445346" "01897" "00445347" "01897" "00445348" "01897" "00445349" "01897" "00445350" "01897" "00445351" "00907" "00445351" "01897" "00445352" "00907" "00445352" "01897" "00445353" "01897" "00445354" "01897" "00445355" "00000" "00445356" "01897" "00445357" "01897" "00445358" "01897" "00445359" "01897" "00445360" "01897" "00445361" "01897" "00445362" "01897" "00445363" "01897" "00445364" "01897" "00445365" "01897" "00445366" "01897" "00445367" "01897" "00445368" "01897" "00445369" "01897" "00445370" "01897" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00907, 01897 ## Count = 31 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000334524" "01897" "00445297" "04623" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease" "" "0000334573" "01897" "00445343" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "Anderson disease" "" "0000334574" "01897" "00445344" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "Anderson disease" "" "0000334575" "01897" "00445345" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease" "" "0000334576" "01897" "00445346" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease" "" "0000334577" "01897" "00445347" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease" "" "0000334578" "01897" "00445348" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease" "" "0000334579" "01897" "00445349" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease" "" "0000334580" "01897" "00445350" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease" "" "0000334581" "01897" "00445351" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease - Marinesco-Sjogren syndrome" "" "0000334582" "01897" "00445352" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease - Marinesco-Sjogren syndrome" "" "0000334583" "01897" "00445353" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive in infancy" "" "" "" "" "" "" "" "" "CMRD" "chylomicron retention disease - Anderson disease" "" "0000334584" "01897" "00445354" "00006" "Familial, autosomal recessive" "" "see paper; ..., chronic diarrhoea, weight loss" "" "" "" "" "" "" "" "" "CMRD" "Anderson disease" "" "0000334588" "01897" "00445356" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "6y" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334589" "01897" "00445357" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "8y" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334590" "01897" "00445358" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "3m" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334591" "01897" "00445359" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "6y" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334592" "01897" "00445360" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "8y" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334593" "01897" "00445361" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes upper limbs decreased, lower limbs absent" "" "11y" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334594" "01897" "00445362" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "3m" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334595" "01897" "00445363" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "2m" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334596" "01897" "00445364" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "3m" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334597" "01897" "00445365" "00006" "Familial, autosomal recessive" "" "see paper; ..., no diarrhea, vomiting; hepatic signs HM; tendon reflexes present (upper/lower limbs)" "" "14d" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334598" "01897" "00445366" "00006" "Familial, autosomal recessive" "" "see paper; ..., no diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "3m15d" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334599" "01897" "00445367" "00006" "Familial, autosomal recessive" "" "see paper; ..., no diarrhea, no vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "10y" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334600" "01897" "00445368" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "2m" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334601" "01897" "00445369" "00006" "Familial, autosomal recessive" "" "see paper; ..., no diarrhea, vomiting; no hepatic signs; tendon reflexes present (upper/lower limbs)" "" "5m" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334602" "01897" "00445370" "00006" "Familial, autosomal recessive" "" "see paper; ..., diarrhea, no vomiting; no hepatic signs; tendon reflexes upper limbs quick, lower limbs decreased" "" "2y" "" "" "" "" "" "" "CMRD" "Anderson/chylomicron retention disease" "" "0000334603" "00907" "00445351" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataracts, ataxia, delayed growth, mental retardation" "" "" "" "" "" "" "" "" "MSS" "chylomicron retention disease - Marinesco-Sjogren syndrome" "" "0000334604" "00907" "00445352" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataracts, ataxia, delayed growth, mental retardation" "" "" "" "" "" "" "" "" "MSS" "chylomicron retention disease - Marinesco-Sjogren syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000446868" "00445297" "1" "04623" "04623" "2024-01-08 13:42:33" "" "" "SEQ-NG" "DNA" "" "" "0000446913" "00445343" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446914" "00445344" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446915" "00445345" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446916" "00445346" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446917" "00445347" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446918" "00445348" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446919" "00445349" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446920" "00445350" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446921" "00445351" "1" "00006" "00006" "2024-01-10 10:10:39" "00006" "2024-01-10 12:19:03" "SEQ" "DNA" "" "" "0000446922" "00445352" "1" "00006" "00006" "2024-01-10 10:10:39" "00006" "2024-01-10 12:22:35" "SEQ" "DNA" "" "" "0000446923" "00445353" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446924" "00445354" "1" "00006" "00006" "2024-01-10 10:10:39" "" "" "SEQ" "DNA" "" "" "0000446925" "00445355" "1" "00006" "00006" "2024-01-10 10:13:23" "" "" "SEQ" "DNA" "" "" "0000446927" "00445356" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000446928" "00445357" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000446929" "00445358" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446930" "00445359" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446931" "00445360" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446932" "00445361" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446933" "00445362" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446934" "00445363" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446935" "00445364" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446936" "00445365" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446937" "00445366" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446938" "00445367" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446939" "00445368" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446940" "00445369" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" "0000446941" "00445370" "1" "00006" "00006" "2024-01-10 12:09:14" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000446868" "SAR1B" "0000446913" "SAR1B" "0000446914" "SAR1B" "0000446915" "SAR1B" "0000446916" "SAR1B" "0000446917" "SAR1B" "0000446918" "SAR1B" "0000446919" "SAR1B" "0000446920" "SAR1B" "0000446921" "SAR1B" "0000446921" "SIL1" "0000446922" "SAR1B" "0000446922" "SIL1" "0000446923" "SAR1B" "0000446924" "SAR1B" "0000446925" "SAR1B" "0000446927" "SAR1B" "0000446928" "SAR1B" "0000446929" "SAR1B" "0000446930" "SAR1B" "0000446931" "SAR1B" "0000446932" "SAR1B" "0000446933" "SAR1B" "0000446934" "SAR1B" "0000446935" "SAR1B" "0000446936" "SAR1B" "0000446937" "SAR1B" "0000446938" "SAR1B" "0000446939" "SAR1B" "0000446940" "SAR1B" "0000446941" "SAR1B" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 128 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000246357" "0" "10" "5" "133942759" "133942759" "subst" "9.3601E-5" "02330" "SAR1B_000011" "g.133942759A>G" "" "" "" "SAR1B(NM_001033503.3):c.481-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134607069A>G" "" "benign" "" "0000246358" "0" "10" "5" "133942769" "133942769" "subst" "0.000773735" "02330" "SAR1B_000022" "g.133942769A>G" "" "" "" "SAR1B(NM_001033503.3):c.481-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134607079A>G" "" "benign" "" "0000246359" "0" "10" "5" "133944277" "133944277" "subst" "0" "02330" "SAR1B_000015" "g.133944277A>C" "" "" "" "SAR1B(NM_001033503.3):c.349-84T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134608587A>C" "" "benign" "" "0000246360" "0" "10" "5" "133945374" "133945374" "del" "0" "02330" "SAR1B_000009" "g.133945374del" "" "" "" "SAR1B(NM_001033503.3):c.245-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134609684del" "" "benign" "" "0000295238" "0" "10" "5" "133942492" "133942492" "subst" "0" "02330" "SAR1B_000001" "g.133942492T>C" "" "" "" "SAR1B(NM_001033503.3):c.*148A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134606802T>C" "" "benign" "" "0000295239" "0" "10" "5" "133956668" "133956668" "subst" "0.141342" "02330" "SAR1B_000018" "g.133956668G>A" "" "" "" "SAR1B(NM_001033503.3):c.133C>T (p.L45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134620978G>A" "" "benign" "" "0000295240" "0" "70" "5" "133948416" "133948416" "subst" "2.07221E-5" "02330" "SAR1B_000010" "g.133948416G>A" "" "" "" "SAR1B(NM_001033503.3):c.209C>T (p.T70M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134612726G>A" "" "likely pathogenic" "" "0000295241" "0" "10" "5" "133945380" "133945381" "del" "0" "02330" "SAR1B_000017" "g.133945380_133945381del" "" "" "" "SAR1B(NM_001033503.3):c.245-17_245-16delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134609690_134609691del" "" "benign" "" "0000295242" "0" "50" "5" "133945329" "133945329" "subst" "1.62503E-5" "02330" "SAR1B_000016" "g.133945329T>G" "" "" "" "SAR1B(NM_001033503.2):c.280A>C (p.N94H), SAR1B(NM_001033503.3):c.280A>C (p.N94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134609639T>G" "" "VUS" "" "0000295243" "0" "10" "5" "133945288" "133945288" "subst" "0.00153979" "02330" "SAR1B_000008" "g.133945288C>T" "" "" "" "SAR1B(NM_001033503.3):c.321G>A (p.R107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134609598C>T" "" "benign" "" "0000295244" "0" "30" "5" "133943937" "133943937" "subst" "0" "02330" "SAR1B_000012" "g.133943937G>T" "" "" "" "SAR1B(NM_001033503.3):c.480+125C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134608247G>T" "" "likely benign" "" "0000295245" "0" "10" "5" "133944058" "133944059" "del" "0" "02330" "SAR1B_000014" "g.133944058_133944059del" "" "" "" "SAR1B(NM_001033503.3):c.480+17_480+18delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134608368_134608369del" "" "benign" "" "0000295246" "0" "10" "5" "133944059" "133944059" "del" "0" "02330" "SAR1B_000006" "g.133944059del" "" "" "" "SAR1B(NM_001033503.3):c.480+18delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134608369del" "" "benign" "" "0000295249" "0" "10" "5" "133943857" "133943857" "subst" "0" "02330" "SAR1B_000004" "g.133943857C>G" "" "" "" "SAR1B(NM_001033503.3):c.480+205G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134608167C>G" "" "benign" "" "0000295250" "0" "30" "5" "133942728" "133942728" "subst" "4.06468E-6" "02330" "SAR1B_000003" "g.133942728G>A" "" "" "" "SAR1B(NM_001033503.3):c.509C>T (p.A170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134607038G>A" "" "likely benign" "" "0000295251" "0" "90" "5" "133942725" "133942725" "subst" "0.000109726" "02330" "SAR1B_000002" "g.133942725C>T" "" "" "" "SAR1B(NM_001033503.3):c.512G>A (p.R171Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134607035C>T" "" "pathogenic" "" "0000295252" "0" "10" "5" "133956714" "133956714" "subst" "0" "02330" "SAR1B_000019" "g.133956714T>C" "" "" "" "SAR1B(NM_001033503.3):c.87A>G (p.V29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134621024T>C" "" "benign" "" "0000297900" "0" "10" "5" "133944059" "133944059" "del" "0" "02325" "SAR1B_000007" "g.133944059del" "" "" "" "SAR1B(NM_001033503.3):c.480+18delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134608369del" "" "benign" "" "0000307709" "0" "50" "5" "133945329" "133945329" "subst" "1.62503E-5" "01943" "SAR1B_000016" "g.133945329T>G" "" "" "" "SAR1B(NM_001033503.2):c.280A>C (p.N94H), SAR1B(NM_001033503.3):c.280A>C (p.N94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134609639T>G" "" "VUS" "" "0000524195" "0" "70" "5" "133942678" "133942678" "subst" "3.24947E-5" "02330" "SAR1B_000020" "g.133942678C>T" "" "" "" "SAR1B(NM_001033503.3):c.559G>A (p.G187R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134606988C>T" "" "likely pathogenic" "" "0000524196" "0" "90" "5" "133942683" "133942683" "subst" "0" "02330" "SAR1B_000021" "g.133942683C>T" "" "" "" "SAR1B(NM_001033503.3):c.554G>A (p.G185D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134606993C>T" "" "pathogenic" "" "0000524197" "0" "10" "5" "133944059" "133944059" "dup" "0" "02330" "SAR1B_000023" "g.133944059dup" "" "" "" "SAR1B(NM_001033503.3):c.480+18dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134608369dup" "" "benign" "" "0000524205" "0" "10" "5" "133944119" "133944119" "subst" "1.24132E-5" "02330" "SAR1B_000031" "g.133944119G>A" "" "" "" "SAR1B(NM_001033503.3):c.423C>T (p.A141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134608429G>A" "" "benign" "" "0000524206" "0" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "02330" "SAR1B_000032" "g.133944133C>T" "" "" "" "SAR1B(NM_001033503.2):c.409G>A (p.D137N), SAR1B(NM_001033503.3):c.409G>A (p.D137N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134608443C>T" "" "pathogenic" "" "0000524207" "0" "30" "5" "133944182" "133944182" "subst" "0" "02330" "SAR1B_000033" "g.133944182T>G" "" "" "" "SAR1B(NM_001033503.3):c.360A>C (p.T120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134608492T>G" "" "likely benign" "" "0000524208" "0" "30" "5" "133948352" "133948371" "dup" "0" "02330" "SAR1B_000034" "g.133948352_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+30_244+49dupTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612662_134612681dup" "" "likely benign" "" "0000524209" "0" "30" "5" "133948354" "133948371" "dup" "0" "02330" "SAR1B_000035" "g.133948354_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+32_244+49dupTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612664_134612681dup" "" "likely benign" "" "0000524210" "0" "10" "5" "133948358" "133948371" "del" "0" "02330" "SAR1B_000036" "g.133948358_133948371del" "" "" "" "SAR1B(NM_001033503.3):c.244+36_244+49delTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612668_134612681del" "" "benign" "" "0000524211" "0" "30" "5" "133948358" "133948371" "dup" "0" "02330" "SAR1B_000037" "g.133948358_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+36_244+49dupTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612668_134612681dup" "" "likely benign" "" "0000524212" "0" "30" "5" "133948364" "133948364" "subst" "0" "02330" "SAR1B_000038" "g.133948364A>T" "" "" "" "SAR1B(NM_001033503.3):c.244+17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612674A>T" "" "likely benign" "" "0000524213" "0" "30" "5" "133948372" "133948372" "subst" "2.83946E-5" "02330" "SAR1B_000039" "g.133948372G>T" "" "" "" "SAR1B(NM_001033503.3):c.244+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612682G>T" "" "likely benign" "" "0000524214" "0" "50" "5" "133948421" "133948421" "subst" "0.000135796" "02330" "SAR1B_000040" "g.133948421G>A" "" "" "" "SAR1B(NM_001033503.3):c.204C>T (p.G68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612731G>A" "" "VUS" "" "0000524215" "0" "30" "5" "133948452" "133948453" "del" "0" "02330" "SAR1B_000041" "g.133948452_133948453del" "" "" "" "SAR1B(NM_001033503.3):c.179-6_179-5delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612762_134612763del" "" "likely benign" "" "0000524216" "0" "10" "5" "133948456" "133948456" "subst" "1.68346E-5" "02330" "SAR1B_000042" "g.133948456A>G" "" "" "" "SAR1B(NM_001033503.3):c.179-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612766A>G" "" "benign" "" "0000524217" "0" "10" "5" "133956616" "133956616" "subst" "0" "02330" "SAR1B_000043" "g.133956616T>C" "" "" "" "SAR1B(NM_001033503.3):c.178+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134620926T>C" "" "benign" "" "0000524218" "0" "90" "5" "133956717" "133956718" "del" "2.43696E-5" "02330" "SAR1B_000044" "g.133956717_133956718del" "" "" "" "SAR1B(NM_001033503.3):c.83_84delTG (p.L28Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134621027_134621028del" "" "pathogenic" "" "0000524219" "0" "10" "5" "133957198" "133957205" "del" "0" "02330" "SAR1B_000045" "g.133957198_133957205del" "" "" "" "SAR1B(NM_001033503.3):c.59-431_59-424delATTTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134621508_134621515del" "" "benign" "" "0000524220" "0" "70" "5" "133959706" "133959706" "subst" "4.06246E-6" "02330" "SAR1B_000046" "g.133959706A>G" "" "" "" "SAR1B(NM_001033503.3):c.4T>C (p.S2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134624016A>G" "" "likely pathogenic" "" "0000609481" "0" "50" "5" "133944134" "133944134" "subst" "0" "02330" "SAR1B_000047" "g.133944134G>C" "" "" "" "SAR1B(NM_001033503.3):c.408C>G (p.I136M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134608444G>C" "" "VUS" "" "0000609482" "0" "30" "5" "133945622" "133945627" "del" "0" "02330" "SAR1B_000048" "g.133945622_133945627del" "" "" "" "SAR1B(NM_001033503.3):c.245-262_245-257delTTTTAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134609932_134609937del" "" "likely benign" "" "0000609483" "0" "30" "5" "133948412" "133948412" "subst" "0" "02330" "SAR1B_000052" "g.133948412A>G" "" "" "" "SAR1B(NM_001033503.3):c.213T>C (p.F71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612722A>G" "" "likely benign" "" "0000621470" "0" "30" "5" "133945653" "133945653" "subst" "0" "02330" "SAR1B_000049" "g.133945653C>T" "" "" "" "SAR1B(NM_001033503.3):c.245-289G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134609963C>T" "" "likely benign" "" "0000621471" "0" "30" "5" "133948364" "133948371" "del" "0" "02330" "SAR1B_000050" "g.133948364_133948371del" "" "" "" "SAR1B(NM_001033503.3):c.244+42_244+49delTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612674_134612681del" "" "likely benign" "" "0000621472" "0" "70" "5" "133948407" "133948407" "subst" "0" "02330" "SAR1B_000051" "g.133948407G>A" "" "" "" "SAR1B(NM_001033503.3):c.218C>T (p.T73I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134612717G>A" "" "likely pathogenic" "" "0000621473" "0" "10" "5" "133957202" "133957205" "del" "0" "02330" "SAR1B_000053" "g.133957202_133957205del" "" "" "" "SAR1B(NM_001033503.3):c.59-427_59-424delATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134621512_134621515del" "" "benign" "" "0000621474" "0" "10" "5" "133959210" "133959211" "dup" "0" "02330" "SAR1B_000054" "g.133959210_133959211dup" "" "" "" "SAR1B(NM_001033503.3):c.58+456_58+457dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134623520_134623521dup" "" "benign" "" "0000655280" "0" "90" "5" "133942683" "133942683" "subst" "0" "02330" "SAR1B_000055" "g.133942683C>A" "" "" "" "SAR1B(NM_001033503.3):c.554G>T (p.G185V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134606993C>A" "" "pathogenic" "" "0000677393" "0" "30" "5" "133948356" "133948371" "dup" "0" "02330" "SAR1B_000056" "g.133948356_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+34_244+49dupTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677394" "0" "10" "5" "133948372" "133948372" "subst" "0.0485453" "02330" "SAR1B_000057" "g.133948372G>A" "" "" "" "SAR1B(NM_001033503.3):c.244+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677395" "0" "30" "5" "133956680" "133956680" "subst" "0" "02330" "SAR1B_000058" "g.133956680A>G" "" "" "" "SAR1B(NM_001033503.3):c.121T>C (p.L41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689430" "0" "50" "5" "133942688" "133942688" "subst" "0" "02330" "SAR1B_000059" "g.133942688T>C" "" "" "" "SAR1B(NM_001033503.3):c.549A>G (p.R183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689431" "0" "50" "5" "133944108" "133944108" "subst" "0" "02330" "SAR1B_000060" "g.133944108T>C" "" "" "" "SAR1B(NM_001033503.3):c.434A>G (p.E145G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689432" "0" "50" "5" "133956623" "133956623" "subst" "1.62434E-5" "02330" "SAR1B_000061" "g.133956623T>C" "" "" "" "SAR1B(NM_001033503.3):c.178A>G (p.T60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720176" "0" "30" "5" "133942679" "133942679" "subst" "4.06194E-6" "02330" "SAR1B_000062" "g.133942679G>A" "" "" "" "SAR1B(NM_001033503.3):c.558C>T (p.Y186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720177" "0" "30" "5" "133948353" "133948371" "dup" "0" "02330" "SAR1B_000063" "g.133948353_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+31_244+49dupTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720178" "0" "90" "5" "133956717" "133956718" "del" "2.43696E-5" "02329" "SAR1B_000044" "g.133956717_133956718del" "" "" "" "SAR1B(NM_001033503.3):c.83_84delTG (p.L28Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801889" "0" "50" "5" "133944196" "133944196" "subst" "0" "02330" "SAR1B_000064" "g.133944196G>A" "" "" "" "SAR1B(NM_001033503.3):c.349-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801890" "0" "50" "5" "133945329" "133945329" "subst" "1.62503E-5" "02325" "SAR1B_000016" "g.133945329T>G" "" "" "" "SAR1B(NM_001033503.2):c.280A>C (p.N94H), SAR1B(NM_001033503.3):c.280A>C (p.N94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801891" "0" "30" "5" "133948345" "133948371" "dup" "0" "02330" "SAR1B_000065" "g.133948345_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+50_244+51insTTTTTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801892" "0" "30" "5" "133948349" "133948371" "dup" "0" "02330" "SAR1B_000066" "g.133948349_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+27_244+49dupTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801893" "0" "30" "5" "133948351" "133948371" "dup" "0" "02330" "SAR1B_000067" "g.133948351_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+29_244+49dupTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801894" "0" "30" "5" "133948355" "133948371" "dup" "0" "02330" "SAR1B_000068" "g.133948355_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+33_244+49dupTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801895" "0" "30" "5" "133948357" "133948371" "dup" "0" "02330" "SAR1B_000069" "g.133948357_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+35_244+49dupTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801896" "0" "30" "5" "133948368" "133948371" "dup" "0" "02330" "SAR1B_000070" "g.133948368_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+46_244+49dupTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850773" "0" "10" "5" "133948346" "133948371" "dup" "0" "02330" "SAR1B_000073" "g.133948346_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+50_244+51insTTTTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850774" "0" "30" "5" "133948348" "133948371" "dup" "0" "02330" "SAR1B_000074" "g.133948348_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+26_244+49dupTTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850775" "0" "30" "5" "133948427" "133948427" "subst" "0" "02330" "SAR1B_000077" "g.133948427A>G" "" "" "" "SAR1B(NM_001033503.3):c.198T>C (p.I66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859753" "0" "50" "5" "133944059" "133944059" "subst" "0" "02330" "SAR1B_000071" "g.133944059T>A" "" "" "" "SAR1B(NM_001033503.3):c.480+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859754" "0" "50" "5" "133944133" "133944133" "subst" "2.46613E-5" "01943" "SAR1B_000032" "g.133944133C>T" "" "" "" "SAR1B(NM_001033503.2):c.409G>A (p.D137N), SAR1B(NM_001033503.3):c.409G>A (p.D137N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859755" "0" "50" "5" "133945362" "133945362" "subst" "0" "02330" "SAR1B_000072" "g.133945362G>C" "" "" "" "SAR1B(NM_001033503.3):c.247C>G (p.R83G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859756" "0" "10" "5" "133948356" "133948371" "del" "0" "02330" "SAR1B_000075" "g.133948356_133948371del" "" "" "" "SAR1B(NM_001033503.3):c.244+34_244+49delTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859757" "0" "90" "5" "133948405" "133948407" "dup" "0" "02330" "SAR1B_000076" "g.133948405_133948407dup" "" "" "" "SAR1B(NM_001033503.3):c.218_220dupCTT (p.T73_F74insS)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859758" "0" "50" "5" "133956753" "133956753" "subst" "0" "02330" "SAR1B_000078" "g.133956753A>G" "" "" "" "SAR1B(NM_001033503.3):c.59-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859759" "0" "30" "5" "133956758" "133956758" "subst" "0" "02330" "SAR1B_000079" "g.133956758T>C" "" "" "" "SAR1B(NM_001033503.3):c.59-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886598" "0" "50" "5" "133944203" "133944203" "del" "0" "02330" "SAR1B_000080" "g.133944203del" "" "" "" "SAR1B(NM_001033503.3):c.349-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886599" "0" "30" "5" "133948350" "133948371" "dup" "0" "02330" "SAR1B_000081" "g.133948350_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+28_244+49dupTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886600" "0" "30" "5" "133948366" "133948374" "del" "0" "02330" "SAR1B_000082" "g.133948366_133948374del" "" "" "" "SAR1B(NM_001033503.3):c.244+9_244+17delCTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886601" "0" "30" "5" "133948372" "133948373" "del" "0" "02330" "SAR1B_000083" "g.133948372_133948373del" "" "" "" "SAR1B(NM_001033503.3):c.244+9_244+10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886602" "0" "50" "5" "133948419" "133948419" "subst" "0" "02325" "SAR1B_000084" "g.133948419A>G" "" "" "" "SAR1B(NM_001033503.3):c.206T>C (p.M69T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912225" "0" "50" "5" "133942741" "133942741" "subst" "0" "02330" "SAR1B_000085" "g.133942741T>G" "" "" "" "SAR1B(NM_001033503.3):c.496A>C (p.K166Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912226" "0" "50" "5" "133945295" "133945295" "subst" "0" "02330" "SAR1B_000086" "g.133945295T>C" "" "" "" "SAR1B(NM_001033503.3):c.314A>G (p.H105R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912227" "0" "50" "5" "133956661" "133956661" "subst" "0" "02330" "SAR1B_000087" "g.133956661T>C" "" "" "" "SAR1B(NM_001033503.3):c.140A>G (p.D47G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924243" "0" "50" "5" "133944174" "133944174" "subst" "0" "02330" "SAR1B_000088" "g.133944174G>T" "" "" "" "SAR1B(NM_001033503.3):c.368C>A (p.T123N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929011" "0" "30" "5" "133942772" "133942772" "subst" "0" "02330" "SAR1B_000089" "g.133942772G>T" "" "" "" "SAR1B(NM_001033503.3):c.481-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929012" "0" "30" "5" "133948342" "133948371" "dup" "0" "02330" "SAR1B_000090" "g.133948342_133948371dup" "" "" "" "SAR1B(NM_001033503.3):c.244+20_244+49dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948471" "0" "50" "5" "133945272" "133945272" "subst" "0" "02330" "SAR1B_000091" "g.133945272C>T" "" "" "" "SAR1B(NM_001033503.3):c.337G>A (p.E113K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948472" "0" "30" "5" "133948370" "133948374" "del" "0" "02330" "SAR1B_000092" "g.133948370_133948374del" "" "" "" "SAR1B(NM_001033503.3):c.244+9_244+13delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948473" "0" "30" "5" "133948374" "133948379" "dup" "0" "02330" "SAR1B_000093" "g.133948374_133948379dup" "" "" "" "SAR1B(NM_001033503.3):c.244+3_244+8dupAAGATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948474" "0" "30" "5" "133956738" "133956738" "subst" "4.06326E-5" "02330" "SAR1B_000094" "g.133956738T>C" "" "" "" "SAR1B(NM_001033503.3):c.63A>G (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000955268" "21" "70" "5" "133956573" "133959759" "del" "0" "04623" "SAR1B_000096" "g.(133948496_133956573)_(133959759_133968417)del" "" "" "" "" "variant initially detected as one deletion on one allele" "Germline" "yes" "" "0" "" "" "g.(134612806_134620883)_(134624069_134632727)del" "" "pathogenic (recessive)" "ACMG" "0000955269" "11" "90" "5" "133944012" "133948496" "del" "0" "04623" "SAR1B_000095" "g.(133942806_133944012)_(133948496_133956573)del" "" "" "" "" "variant initially detected as one deletion on one allele" "Germline" "yes" "" "0" "" "" "g.(134607116_134608322)_(134612806_134620883)del" "" "pathogenic (recessive)" "ACMG" "0000955330" "3" "90" "5" "133956692" "133956692" "subst" "0" "00006" "SAR1B_000105" "g.133956692C>T" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134621002C>T" "" "pathogenic (recessive)" "" "0000955331" "3" "90" "5" "133956692" "133956692" "subst" "0" "00006" "SAR1B_000105" "g.133956692C>T" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134621002C>T" "" "pathogenic (recessive)" "" "0000955332" "3" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "00006" "SAR1B_000032" "g.133944133C>T" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608443C>T" "" "pathogenic (recessive)" "" "0000955333" "3" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "00006" "SAR1B_000032" "g.133944133C>T" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608443C>T" "" "pathogenic (recessive)" "" "0000955334" "1" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "00006" "SAR1B_000032" "g.133944133C>T" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "" "" "0" "" "" "g.134608443C>T" "" "pathogenic (recessive)" "" "0000955335" "3" "90" "5" "133942700" "133942700" "subst" "2.0312E-5" "00006" "SAR1B_000101" "g.133942700A>T" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "" "" "0" "" "" "g.134607010A>T" "" "pathogenic (recessive)" "" "0000955336" "3" "90" "5" "133942679" "133942682" "dup" "0" "00006" "SAR1B_000099" "g.133942679_133942682dup" "" "{PMID:Jones 2003:12692552}" "" "555-558dupTTAC" "" "Germline" "yes" "" "0" "" "" "g.134606989_134606992dup" "" "pathogenic (recessive)" "" "0000955337" "3" "90" "5" "133942679" "133942682" "dup" "0" "00006" "SAR1B_000099" "g.133942679_133942682dup" "" "{PMID:Jones 2003:12692552}" "" "555-558dupTTAC" "" "Germline" "yes" "" "0" "" "" "g.134606989_134606992dup" "" "pathogenic (recessive)" "" "0000955338" "3" "90" "5" "133944194" "133944194" "subst" "0" "00006" "SAR1B_000104" "g.133944194C>G" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608504C>G" "" "pathogenic (recessive)" "" "0000955339" "3" "90" "5" "133944194" "133944194" "subst" "0" "00006" "SAR1B_000104" "g.133944194C>G" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608504C>G" "" "pathogenic (recessive)" "" "0000955340" "3" "90" "5" "133942701" "133942701" "subst" "0" "00006" "SAR1B_000102" "g.133942701C>A" "" "{PMID:Jones 2003:12692552}" "" "536G>T;542T>C" "" "Germline" "" "" "0" "" "" "g.134607011C>A" "" "pathogenic (recessive)" "" "0000955341" "3" "90" "5" "133956692" "133956692" "subst" "0" "00006" "SAR1B_000105" "g.133956692C>T" "" "{PMID:Jones 2003:12692552}" "" "" "" "Germline" "" "" "0" "" "" "g.134621002C>T" "" "pathogenic (recessive)" "" "0000955342" "3" "90" "5" "133956725" "133956726" "del" "0" "00006" "SAR1B_000097" "g.133956725_133956726del" "" "{PMID:Jones 2003:12692552}" "" "75-76delTG" "" "Germline" "" "" "0" "" "" "g.134621035_134621036del" "" "pathogenic (recessive)" "" "0000955343" "3" "90" "5" "133942695" "133942695" "subst" "0" "00006" "SAR1B_000100" "g.133942695A>G" "" "{PMID:Jones 2003:12692552}" "" "536G>T;542T>C" "" "Germline" "" "" "0" "" "" "g.134607005A>G" "" "pathogenic (recessive)" "" "0000955344" "0" "30" "5" "133942491" "133942491" "subst" "0" "00006" "SAR1B_000098" "g.133942491A>C" "0.125 in controls" "{PMID:Jones 2003:12692552}" "" "746T>G 3\'UTR" "" "Germline" "" "" "0" "" "" "g.134606801A>C" "" "benign" "" "0000955346" "3" "90" "5" "133958224" "133964223" "delins" "0" "00006" "SAR1B_000106" "g.133958224_133964223delinsACCCGCCATCATGCG" "" "{PMID:Charcosset 2008:17945526}" "" "1-4482_58+1406del5946ins15pb (Met1_His43del)" "" "Germline" "yes" "" "0" "" "" "g.134622534_134628533delinsACCCGCCATCATGCG" "" "pathogenic (recessive)" "" "0000955347" "3" "90" "5" "133958224" "133964223" "delins" "0" "00006" "SAR1B_000106" "g.133958224_133964223delinsACCCGCCATCATGCG" "" "{PMID:Charcosset 2008:17945526}" "" "2-4482_58+1406del5946ins15pb (Met1_His43del)" "" "Germline" "yes" "" "0" "" "" "g.134622534_134628533delinsACCCGCCATCATGCG" "" "pathogenic (recessive)" "" "0000955348" "3" "90" "5" "133944178" "133944178" "subst" "1.64162E-5" "00006" "SAR1B_000103" "g.133944178C>A" "" "{PMID:Charcosset 2008:17945526}" "" "364G>C" "" "Germline" "yes" "" "0" "" "" "g.134608488C>A" "" "pathogenic (recessive)" "" "0000955349" "3" "90" "5" "133944178" "133944178" "subst" "1.64162E-5" "00006" "SAR1B_000103" "g.133944178C>A" "" "{PMID:Charcosset 2008:17945526}" "" "364G>C" "" "Germline" "yes" "" "0" "" "" "g.134608488C>A" "" "pathogenic (recessive)" "" "0000955350" "3" "90" "5" "133944178" "133944178" "subst" "1.64162E-5" "00006" "SAR1B_000103" "g.133944178C>A" "" "{PMID:Charcosset 2008:17945526}" "" "364G>C" "" "Germline" "yes" "" "0" "" "" "g.134608488C>A" "" "pathogenic (recessive)" "" "0000955351" "3" "90" "5" "133944178" "133944178" "subst" "1.64162E-5" "00006" "SAR1B_000103" "g.133944178C>A" "" "{PMID:Charcosset 2008:17945526}" "" "364G>C" "" "Germline" "yes" "" "0" "" "" "g.134608488C>A" "" "pathogenic (recessive)" "" "0000955352" "3" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "00006" "SAR1B_000032" "g.133944133C>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608443C>T" "" "pathogenic (recessive)" "" "0000955353" "3" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "00006" "SAR1B_000032" "g.133944133C>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608443C>T" "" "pathogenic (recessive)" "" "0000955354" "3" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "00006" "SAR1B_000032" "g.133944133C>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "" "" "0" "" "" "g.134608443C>T" "" "pathogenic (recessive)" "" "0000955355" "1" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "00006" "SAR1B_000032" "g.133944133C>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608443C>T" "" "pathogenic (recessive)" "" "0000955356" "1" "90" "5" "133944133" "133944133" "subst" "2.46613E-5" "00006" "SAR1B_000032" "g.133944133C>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608443C>T" "" "pathogenic (recessive)" "" "0000955357" "3" "90" "5" "133942700" "133942700" "subst" "2.0312E-5" "00006" "SAR1B_000101" "g.133942700A>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134607010A>T" "" "pathogenic (recessive)" "" "0000955358" "3" "90" "5" "133942700" "133942700" "subst" "2.0312E-5" "00006" "SAR1B_000101" "g.133942700A>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "yes" "" "0" "" "" "g.134607010A>T" "" "pathogenic (recessive)" "" "0000955359" "3" "90" "5" "133942700" "133942700" "subst" "2.0312E-5" "00006" "SAR1B_000101" "g.133942700A>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "" "" "0" "" "" "g.134607010A>T" "" "pathogenic (recessive)" "" "0000955360" "3" "90" "5" "133942683" "133942683" "subst" "0" "00006" "SAR1B_000055" "g.133942683C>A" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "" "" "0" "" "" "g.134606993C>A" "" "pathogenic (recessive)" "" "0000955361" "2" "90" "5" "133942700" "133942700" "subst" "2.0312E-5" "00006" "SAR1B_000101" "g.133942700A>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "" "" "0" "" "" "g.134607010A>T" "" "pathogenic (recessive)" "" "0000955362" "2" "90" "5" "133942700" "133942700" "subst" "2.0312E-5" "00006" "SAR1B_000101" "g.133942700A>T" "" "{PMID:Charcosset 2008:17945526}" "" "" "" "Germline" "" "" "0" "" "" "g.134607010A>T" "" "pathogenic (recessive)" "" "0000976549" "0" "50" "5" "133942739" "133942739" "subst" "0" "02330" "SAR1B_000107" "g.133942739T>G" "" "" "" "SAR1B(NM_001033503.3):c.498A>C (p.K166N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976550" "0" "50" "5" "133945362" "133945362" "subst" "0" "02325" "SAR1B_000072" "g.133945362G>C" "" "" "" "SAR1B(NM_001033503.3):c.247C>G (p.R83G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025031" "0" "50" "5" "133942666" "133942666" "subst" "4.46791E-5" "02330" "SAR1B_000108" "g.133942666G>A" "" "" "" "SAR1B(NM_001033503.3):c.571C>T (p.R191C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025032" "0" "30" "5" "133948363" "133948363" "subst" "0" "02330" "SAR1B_000109" "g.133948363A>G" "" "" "" "SAR1B(NM_001033503.3):c.244+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SAR1B ## Count = 128 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000079500" "00018410" "00" "-8388608" "0" "8388607" "0" "c.-11748886_*10114116dup" "" "" "" "0000246357" "00018410" "10" "481" "-3" "481" "-3" "c.481-3T>C" "r.spl?" "p.?" "" "0000246358" "00018410" "10" "481" "-13" "481" "-13" "c.481-13T>C" "r.(=)" "p.(=)" "" "0000246359" "00018410" "10" "349" "-84" "349" "-84" "c.349-84T>G" "r.(=)" "p.(=)" "" "0000246360" "00018410" "10" "245" "-6" "245" "-6" "c.245-6del" "r.(=)" "p.(=)" "" "0000295238" "00018410" "10" "745" "0" "745" "0" "c.*148A>G" "r.(=)" "p.(=)" "" "0000295239" "00018410" "10" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45=)" "" "0000295240" "00018410" "70" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Thr70Met)" "" "0000295241" "00018410" "10" "245" "-17" "245" "-16" "c.245-17_245-16del" "r.(=)" "p.(=)" "" "0000295242" "00018410" "50" "280" "0" "280" "0" "c.280A>C" "r.(?)" "p.(Asn94His)" "" "0000295243" "00018410" "10" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(Arg107=)" "" "0000295244" "00018410" "30" "480" "125" "480" "125" "c.480+125C>A" "r.(=)" "p.(=)" "" "0000295245" "00018410" "10" "480" "17" "480" "18" "c.480+17_480+18del" "r.(=)" "p.(=)" "" "0000295246" "00018410" "10" "480" "18" "480" "18" "c.480+18del" "r.(=)" "p.(=)" "" "0000295249" "00018410" "10" "480" "205" "480" "205" "c.480+205G>C" "r.(=)" "p.(=)" "" "0000295250" "00018410" "30" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Ala170Val)" "" "0000295251" "00018410" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Arg171Gln)" "" "0000295252" "00018410" "10" "87" "0" "87" "0" "c.87A>G" "r.(?)" "p.(Val29=)" "" "0000297900" "00018410" "10" "480" "18" "480" "18" "c.480+18del" "r.(=)" "p.(=)" "" "0000307709" "00018410" "50" "280" "0" "280" "0" "c.280A>C" "r.(?)" "p.(Asn94His)" "" "0000524195" "00018410" "70" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Arg)" "" "0000524196" "00018410" "90" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Gly185Asp)" "" "0000524197" "00018410" "10" "480" "18" "480" "18" "c.480+18dup" "r.(=)" "p.(=)" "" "0000524205" "00018410" "10" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Ala141=)" "" "0000524206" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000524207" "00018410" "30" "360" "0" "360" "0" "c.360A>C" "r.(?)" "p.(Thr120=)" "" "0000524208" "00018410" "30" "244" "30" "244" "49" "c.244+30_244+49dup" "r.(=)" "p.(=)" "" "0000524209" "00018410" "30" "244" "32" "244" "49" "c.244+32_244+49dup" "r.(=)" "p.(=)" "" "0000524210" "00018410" "10" "244" "36" "244" "49" "c.244+36_244+49del" "r.(=)" "p.(=)" "" "0000524211" "00018410" "30" "244" "36" "244" "49" "c.244+36_244+49dup" "r.(=)" "p.(=)" "" "0000524212" "00018410" "30" "244" "17" "244" "17" "c.244+17T>A" "r.(=)" "p.(=)" "" "0000524213" "00018410" "30" "244" "9" "244" "9" "c.244+9C>A" "r.(=)" "p.(=)" "" "0000524214" "00018410" "50" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Gly68=)" "" "0000524215" "00018410" "30" "179" "-6" "179" "-5" "c.179-6_179-5del" "r.spl?" "p.?" "" "0000524216" "00018410" "10" "179" "-10" "179" "-10" "c.179-10T>C" "r.(=)" "p.(=)" "" "0000524217" "00018410" "10" "178" "7" "178" "7" "c.178+7A>G" "r.(=)" "p.(=)" "" "0000524218" "00018410" "90" "83" "0" "84" "0" "c.83_84del" "r.(?)" "p.(Leu28ArgfsTer7)" "" "0000524219" "00018410" "10" "59" "-431" "59" "-424" "c.59-431_59-424del" "r.(=)" "p.(=)" "" "0000524220" "00018410" "70" "4" "0" "4" "0" "c.4T>C" "r.(?)" "p.(Ser2Pro)" "" "0000609481" "00018410" "50" "408" "0" "408" "0" "c.408C>G" "r.(?)" "p.(Ile136Met)" "" "0000609482" "00018410" "30" "245" "-262" "245" "-257" "c.245-262_245-257del" "r.(=)" "p.(=)" "" "0000609483" "00018410" "30" "213" "0" "213" "0" "c.213T>C" "r.(?)" "p.(Phe71=)" "" "0000621470" "00018410" "30" "245" "-289" "245" "-289" "c.245-289G>A" "r.(=)" "p.(=)" "" "0000621471" "00018410" "30" "244" "42" "244" "49" "c.244+42_244+49del" "r.(=)" "p.(=)" "" "0000621472" "00018410" "70" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Ile)" "" "0000621473" "00018410" "10" "59" "-427" "59" "-424" "c.59-427_59-424del" "r.(=)" "p.(=)" "" "0000621474" "00018410" "10" "58" "456" "58" "457" "c.58+456_58+457dup" "r.(=)" "p.(=)" "" "0000655280" "00018410" "90" "554" "0" "554" "0" "c.554G>T" "r.(?)" "p.(Gly185Val)" "" "0000677393" "00018410" "30" "244" "34" "244" "49" "c.244+34_244+49dup" "r.(=)" "p.(=)" "" "0000677394" "00018410" "10" "244" "9" "244" "9" "c.244+9C>T" "r.(=)" "p.(=)" "" "0000677395" "00018410" "30" "121" "0" "121" "0" "c.121T>C" "r.(?)" "p.(Leu41=)" "" "0000689430" "00018410" "50" "549" "0" "549" "0" "c.549A>G" "r.(?)" "p.(Arg183=)" "" "0000689431" "00018410" "50" "434" "0" "434" "0" "c.434A>G" "r.(?)" "p.(Glu145Gly)" "" "0000689432" "00018410" "50" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Thr60Ala)" "" "0000720176" "00018410" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Tyr186=)" "" "0000720177" "00018410" "30" "244" "31" "244" "49" "c.244+31_244+49dup" "r.(=)" "p.(=)" "" "0000720178" "00018410" "90" "83" "0" "84" "0" "c.83_84del" "r.(?)" "p.(Leu28ArgfsTer7)" "" "0000801889" "00018410" "50" "349" "-3" "349" "-3" "c.349-3C>T" "r.spl?" "p.?" "" "0000801890" "00018410" "50" "280" "0" "280" "0" "c.280A>C" "r.(?)" "p.(Asn94His)" "" "0000801891" "00018410" "30" "244" "23" "244" "49" "c.244+23_244+49dup" "r.(=)" "p.(=)" "" "0000801892" "00018410" "30" "244" "27" "244" "49" "c.244+27_244+49dup" "r.(=)" "p.(=)" "" "0000801893" "00018410" "30" "244" "29" "244" "49" "c.244+29_244+49dup" "r.(=)" "p.(=)" "" "0000801894" "00018410" "30" "244" "33" "244" "49" "c.244+33_244+49dup" "r.(=)" "p.(=)" "" "0000801895" "00018410" "30" "244" "35" "244" "49" "c.244+35_244+49dup" "r.(=)" "p.(=)" "" "0000801896" "00018410" "30" "244" "46" "244" "49" "c.244+46_244+49dup" "r.(=)" "p.(=)" "" "0000850773" "00018410" "10" "244" "24" "244" "49" "c.244+24_244+49dup" "r.(=)" "p.(=)" "" "0000850774" "00018410" "30" "244" "26" "244" "49" "c.244+26_244+49dup" "r.(=)" "p.(=)" "" "0000850775" "00018410" "30" "198" "0" "198" "0" "c.198T>C" "r.(?)" "p.(Ile66=)" "" "0000859753" "00018410" "50" "480" "3" "480" "3" "c.480+3A>T" "r.spl?" "p.?" "" "0000859754" "00018410" "50" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000859755" "00018410" "50" "247" "0" "247" "0" "c.247C>G" "r.(?)" "p.(Arg83Gly)" "" "0000859756" "00018410" "10" "244" "34" "244" "49" "c.244+34_244+49del" "r.(=)" "p.(=)" "" "0000859757" "00018410" "90" "218" "0" "220" "0" "c.218_220dup" "r.(?)" "p.(Thr73_Phe74insSer)" "" "0000859758" "00018410" "50" "59" "-11" "59" "-11" "c.59-11T>C" "r.(=)" "p.(=)" "" "0000859759" "00018410" "30" "59" "-16" "59" "-16" "c.59-16A>G" "r.(=)" "p.(=)" "" "0000886598" "00018410" "50" "349" "-4" "349" "-4" "c.349-4del" "r.spl?" "p.?" "" "0000886599" "00018410" "30" "244" "28" "244" "49" "c.244+28_244+49dup" "r.(=)" "p.(=)" "" "0000886600" "00018410" "30" "244" "9" "244" "17" "c.244+9_244+17del" "r.(=)" "p.(=)" "" "0000886601" "00018410" "30" "244" "9" "244" "10" "c.244+9_244+10del" "r.(=)" "p.(=)" "" "0000886602" "00018410" "50" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Met69Thr)" "" "0000912225" "00018410" "50" "496" "0" "496" "0" "c.496A>C" "r.(?)" "p.(Lys166Gln)" "" "0000912226" "00018410" "50" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(His105Arg)" "" "0000912227" "00018410" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Asp47Gly)" "" "0000924243" "00018410" "50" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Thr123Asn)" "" "0000929011" "00018410" "30" "481" "-16" "481" "-16" "c.481-16C>A" "r.(=)" "p.(=)" "" "0000929012" "00018410" "30" "244" "20" "244" "49" "c.244+20_244+49dup" "r.(=)" "p.(=)" "" "0000948471" "00018410" "50" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Glu113Lys)" "" "0000948472" "00018410" "30" "244" "9" "244" "13" "c.244+9_244+13del" "r.(=)" "p.(=)" "" "0000948473" "00018410" "30" "244" "3" "244" "8" "c.244+3_244+8dup" "r.spl?" "p.?" "" "0000948474" "00018410" "30" "63" "0" "63" "0" "c.63A>G" "r.(?)" "p.(=)" "" "0000955268" "00018410" "70" "-18" "-32" "178" "50" "c.(-19+1_-18-32)_(178+50_179-50)del" "r.?" "p.0?" "1i_3i" "0000955269" "00018410" "90" "179" "-50" "480" "50" "c.(178+50_179-50)_(480+50_481-50)del" "r.?" "p.?" "4i_7i" "0000955330" "00018410" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000955331" "00018410" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000955332" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000955333" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000955334" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000955335" "00018410" "90" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Ser179Arg)" "" "0000955336" "00018410" "90" "555" "0" "558" "0" "c.555_558dup" "r.(?)" "p.(Gly187LeufsTer13)" "" "0000955337" "00018410" "90" "555" "0" "558" "0" "c.555_558dup" "r.(?)" "p.(Gly187LeufsTer13)" "" "0000955338" "00018410" "90" "349" "-1" "349" "-1" "c.349-1G>C" "r.spl" "p.?" "" "0000955339" "00018410" "90" "349" "-1" "349" "-1" "c.349-1G>C" "r.spl" "p.?" "" "0000955340" "00018410" "90" "536" "0" "536" "0" "c.536G>T" "r.(?)" "p.(Ser179Ile)" "" "0000955341" "00018410" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000955342" "00018410" "90" "75" "0" "76" "0" "c.75_76del" "r.(?)" "p.(Gly26Ter)" "" "0000955343" "00018410" "90" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Leu181Pro)" "" "0000955344" "00018410" "30" "746" "0" "746" "0" "c.*149T>G" "r.(*149u>g)" "p.(=)" "" "0000955346" "00018410" "90" "-19" "4195" "58" "1428" "c.-19+4195_58+1428delinsCGCATGATGGCGGGT" "r.-18_58del" "p.Ser2_Met44del" "1i_2i" "0000955347" "00018410" "90" "-19" "4195" "58" "1428" "c.-19+4195_58+1428delinsCGCATGATGGCGGGT" "r.-18_58del" "p.Ser2_Met44del" "1i_2i" "0000955348" "00018410" "90" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122Ter)" "" "0000955349" "00018410" "90" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122Ter)" "" "0000955350" "00018410" "90" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122Ter)" "" "0000955351" "00018410" "90" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122Ter)" "" "0000955352" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000955353" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000955354" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000955355" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000955356" "00018410" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "" "0000955357" "00018410" "90" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Ser179Arg)" "" "0000955358" "00018410" "90" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Ser179Arg)" "" "0000955359" "00018410" "90" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Ser179Arg)" "" "0000955360" "00018410" "90" "554" "0" "554" "0" "c.554G>T" "r.(?)" "p.(Gly185Val)" "" "0000955361" "00018410" "90" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Ser179Arg)" "" "0000955362" "00018410" "90" "537" "0" "537" "0" "c.537T>A" "r.(?)" "p.(Ser179Arg)" "" "0000976549" "00018410" "50" "498" "0" "498" "0" "c.498A>C" "r.(?)" "p.(Lys166Asn)" "" "0000976550" "00018410" "50" "247" "0" "247" "0" "c.247C>G" "r.(?)" "p.(Arg83Gly)" "" "0001025031" "00018410" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "" "0001025032" "00018410" "30" "244" "18" "244" "18" "c.244+18T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000446868" "0000955268" "0000446868" "0000955269" "0000446913" "0000955330" "0000446914" "0000955331" "0000446915" "0000955332" "0000446916" "0000955333" "0000446917" "0000955334" "0000446917" "0000955342" "0000446918" "0000955335" "0000446919" "0000955336" "0000446920" "0000955337" "0000446921" "0000955338" "0000446922" "0000955339" "0000446923" "0000955340" "0000446923" "0000955343" "0000446924" "0000955341" "0000446925" "0000955344" "0000446927" "0000955346" "0000446928" "0000955347" "0000446929" "0000955348" "0000446930" "0000955349" "0000446931" "0000955350" "0000446932" "0000955351" "0000446933" "0000955352" "0000446934" "0000955353" "0000446935" "0000955354" "0000446936" "0000955355" "0000446936" "0000955361" "0000446937" "0000955356" "0000446937" "0000955362" "0000446938" "0000955357" "0000446939" "0000955358" "0000446940" "0000955359" "0000446941" "0000955360"